Canonical Allele Identifier: CA397723513
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125359T>A (hg19) chr17:g.7222040T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222040T>A , CM000679.2:g.7222040T>A GRCh38
NC_000017.10:g.7125359T>A , CM000679.1:g.7125359T>A GRCh37
NC_000017.9:g.7066083T>A NCBI36
NG_007975.1:g.7207T>A
NG_008391.2:g.3011A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.711T>A MANE Select ENSP00000349297.5:p.Cys237Ter
ENST00000322910.9:c.*666T>A ENSP00000325395.5:n.*666T>A
ENST00000350303.9:c.645T>A ENSP00000344152.5:p.Cys215Ter
ENST00000356839.9:c.711T>A ENSP00000349297.5:p.Cys237Ter
ENST00000543245.6:c.780T>A ENSP00000438689.2:p.Cys260Ter
ENST00000577191.5:n.788T>A
ENST00000577857.5:n.527T>A
ENST00000579286.5:n.892T>A
ENST00000580365.1:n.442T>A
ENST00000581378.5:c.429T>A
ENST00000582379.1:n.95T>A
ENST00000583760.1:n.493T>A
NM_000018.3:c.711T>A NP_000009.1:p.Cys237Ter
NM_001033859.2:c.645T>A NP_001029031.1:p.Cys215Ter
NM_001270447.1:c.780T>A NP_001257376.1:p.Cys260Ter
NM_001270448.1:c.483T>A NP_001257377.1:p.Cys161Ter
XM_006721516.2:c.711T>A XP_006721579.2:p.Cys237Ter
XM_011523829.1:c.711T>A XP_011522131.1:p.Cys237Ter
XM_011523830.1:c.711T>A XP_011522132.1:p.Cys237Ter
XR_934021.1:n.818T>A
XR_934022.1:n.818T>A
XR_934023.1:n.818T>A
XM_006721516.3:c.711T>A XP_006721579.2:p.Cys237Ter
XM_011523829.2:c.711T>A XP_011522131.1:p.Cys237Ter
XM_011523830.2:c.711T>A XP_011522132.1:p.Cys237Ter
XM_024450741.1:c.711T>A XP_024306509.1:p.Cys237Ter
XR_934021.2:n.770T>A
XR_934022.2:n.770T>A
XR_934023.2:n.770T>A
NM_000018.4:c.711T>A MANE Select NP_000009.1:p.Cys237Ter
NM_001033859.3:c.645T>A NP_001029031.1:p.Cys215Ter
NM_001270447.2:c.780T>A NP_001257376.1:p.Cys260Ter
NM_001270448.2:c.483T>A NP_001257377.1:p.Cys161Ter
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